Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Foreign body granuloma with crystals, recurrent kidney stones, in a patient with adenine phosphoribosyltransferase deficiency.
Shimoyama K et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist.
Yamazaki K et al.
Journal of Nephrology, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.
Maurissen TL et al.
Nature Communications, 2020
Microhomology-assisted scarless genome editing in human iPSCs.
Kim SI et al.
Nature Communications, 2018
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
Ikeda H et al.
Cen Case Reports, 2016
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2012
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Bollée G et al.
Journal of the American Society of Nephrology : Jasn, 2010
[Adenine phosphoribosyltransferase deficiency and its purine metabolism].
Taniguchi A
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2008
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Silva M et al.
Biochemistry, 2004
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
Phillips CL et al.
The Embo Journal, 1999
[Adenine phosphoribosyltransferase (APRT) deficiency].
Taniguchi A
Ryoikibetsu Shokogun Shirizu, 1998
A Rare Genetic Mutation in a Stone Former.
Raj TY et al.
Indian Journal of Nephrology, 0